SUPRAVALVAR AORTIC-STENOSIS

New information suggests that a genetic defect for supravalvar aortic stenosis may be located in the same chromosomal subunit as elastin on chromosome 7. The two most common clinical presentations are patients with an autosomal dominant familial pedigree associated with normal facies and intelligence, and others with the nonfamilial Williams syndrome with abnormal facial appearance and mental retardation. Peripheral pulmonary arterial stenosis often coexists with the supravalvar aortic obstruction in both of these patient groups. Transcatheter treatment of supravalvar aortic stenosis is not likely to be effective. With severe obstruction, surgical patch procedures are indicated if the aorta is not markedly hypoplastic. Newer operative patch procedures may improve long-term results.